A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640938



Internal ID7027712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60890960..60895697hg38UCSC Ensembl
Innerchr17:60890960..60895697hg38UCSC Ensembl
Outerchr17:60890736..60895987hg38UCSC Ensembl
chr17:58968321..58973058hg19UCSC Ensembl
Innerchr17:58968321..58973058hg19UCSC Ensembl
Outerchr17:58968097..58973348hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384738
hg194738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716233, essv15716240, essv15716238, essv15716242, essv15716235, essv15716234, essv15716236, essv15716241, essv15716239, essv15716237
SamplesHG01816, HG01849, NA19075, HG02138, HG01851, HG01864, HG01852, HG00476, HG00662, HG00656
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640938
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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